Canonical Allele Identifier: CA3184687
Community Standard Title: NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1279409C>T , CM000667.2:g.1279409C>T GRCh38
NC_000005.9:g.1279524C>T , CM000667.1:g.1279524C>T GRCh37
NC_000005.8:g.1332524C>T NCBI36
NG_009265.1:g.20639G>A , LRG_343:g.20639G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.2012G>A MANE Select NP_937983.2:p.Arg671Gln
ENST00000310581.10:c.2012G>A MANE Select ENSP00000309572.5:p.Arg671Gln
NM_001193376.1:c.2012G>A NP_001180305.1:p.Arg671Gln
NM_001193376.2:c.2012G>A NP_001180305.1:p.Arg671Gln
NM_001193376.3:c.2012G>A NP_001180305.1:p.Arg671Gln
NM_198253.2:c.2012G>A , LRG_343t1:c.2012G>A NP_937983.2:p.Arg671Gln
NR_149162.1:n.2070G>A
NR_149162.2:n.2091G>A
NR_149162.3:n.2091G>A
NR_149163.1:n.2070G>A
NR_149163.2:n.2091G>A
NR_149163.3:n.2091G>A
ENST00000310581.9:c.2012G>A ENSP00000309572.5:p.Arg671Gln
ENST00000334602.10:c.2012G>A ENSP00000334346.6:p.Arg671Gln
ENST00000460137.6:c.2012G>A ENSP00000425003.1:p.Arg671Gln
ENST00000484238.6:n.825G>A
ENST00000508104.2:c.2012G>A ENSP00000426042.2:p.Arg671Gln
ENST00000656021.1:c.*1558G>A ENSP00000499759.1:n.*1558G>A
XM_011514104.1:c.482G>A XP_011512406.1:p.Arg161Gln
XM_011514105.1:c.368G>A XP_011512407.1:p.Arg123Gln
XM_011514106.1:c.368G>A XP_011512408.1:p.Arg123Gln